Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant |
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Authors: | Anna Grifa Maria Rosaria Piemontese Salvatore Melchionda Paola Origone Leopoldo Zelante Domenico Coviello Giovanni Fratta Bruno Dallapiccola Paolo Balestrazzi Franco Ajmar Paolo Gasparini |
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Institution: | Servizio di Genetica Medica and Divisione di Neurologia, IRCCS-Ospedale "CSS", San Giovanni Rotondo (FG), Istituto di Biologia e Genetica (IBiG), Universitàdi Geneva;Clinica Pediatrica, Universitàdi Parma, Italy |
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Abstract: | Neurofibromatosis type 1 of von Recklinghausen is a common autosomal dominant disorder, characterized by peripheral neurofibromas, café-au-lait spots and Lisch nodules of the iris. The high mutation rate at the neurofibromatosis type 1 locus results in a wide range of molecular abnormalities. We have screened seven different exons of the neurofibromatosis type 1 gene, including those codifying for the GAP-related domain, using the RNA-Single Strand Conformation Polymorphism (RNA-SSCP) method in a series of 59 neurofibromatosis type 1 patients. We have also analyzed four intragenic repeats and one RFLP to detect hemizygosity and evaluate informativeness in at-risk families. One deletion and a new intronic normal variant have been detected. Thus the majority of Neurofibromatosis type 1 chromosomes have not been characterized, confirming difficulty in providing proper genetic counselling in neurofibromatosis type 1 families, even following extensive DNA analysis. |
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Keywords: | microsatellites mutations neurofibromatosis type 1 RNA-SSCP |
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